Canonical Allele Identifier: CA340817003

Gene: ACADM

Linked Data

• MyVariant Identifiers: chr1:g.76216165A>T (hg19) ; chr1:g.75750480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.75750480A>T , CM000663.2:g.75750480A>T	GRCh38
NC_000001.10:g.76216165A>T , CM000663.1:g.76216165A>T	GRCh37
NC_000001.9:g.75988753A>T	NCBI36
NG_007045.2:g.31123A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370841.9:c.879A>T MANE Select	ENSP00000359878.5:p.Gln293His
ENST00000473018.3:n.3003A>T
ENST00000532207.6:n.1768A>T
ENST00000541113.6:c.849+921A>T	ENSP00000442324.2:n.849+921A>T
ENST00000679509.1:n.1841A>T
ENST00000679530.1:c.*647A>T	ENSP00000506454.1:n.*647A>T
ENST00000679615.1:n.2894A>T
ENST00000679687.1:c.441A>T	ENSP00000506598.1:p.Gln147His
ENST00000679704.1:c.*645A>T	ENSP00000505117.1:n.*645A>T
ENST00000679709.1:c.*842A>T	ENSP00000506623.1:n.*842A>T
ENST00000679976.1:c.*463A>T	ENSP00000505565.1:n.*463A>T
ENST00000680166.1:n.4168A>T
ENST00000680315.1:n.762A>T
ENST00000680517.1:c.*267A>T	ENSP00000505803.1:n.*267A>T
ENST00000680582.1:n.1841A>T
ENST00000680613.1:c.*250A>T	ENSP00000506114.1:n.*250A>T
ENST00000680662.1:c.*793A>T	ENSP00000505080.1:n.*793A>T
ENST00000680691.1:c.*542A>T	ENSP00000506487.1:n.*542A>T
ENST00000680694.1:c.*467A>T	ENSP00000505658.1:n.*467A>T
ENST00000680743.1:c.*546A>T	ENSP00000505073.1:n.*546A>T
ENST00000680749.1:c.*164A>T	ENSP00000505122.1:n.*164A>T
ENST00000680798.1:c.*354A>T	ENSP00000505670.1:n.*354A>T
ENST00000680805.1:c.738A>T	ENSP00000505447.1:p.Gln246His
ENST00000680844.1:c.*663A>T	ENSP00000506541.1:n.*663A>T
ENST00000680948.1:c.*746A>T	ENSP00000505441.1:n.*746A>T
ENST00000680964.1:c.879A>T	ENSP00000505961.1:p.Gln293His
ENST00000681037.1:c.*2363A>T	ENSP00000506025.1:n.*2363A>T
ENST00000681063.1:c.*26A>T	ENSP00000506616.1:n.*26A>T
ENST00000681209.1:c.*534A>T	ENSP00000505877.1:n.*534A>T
ENST00000681278.1:n.1236A>T
ENST00000681289.1:n.4874A>T
ENST00000681361.1:c.*546A>T	ENSP00000506679.1:n.*546A>T
ENST00000681430.1:c.879A>T	ENSP00000506301.1:p.Gln293His
ENST00000681446.1:c.*461A>T	ENSP00000506244.1:n.*461A>T
ENST00000681450.1:c.*550A>T	ENSP00000505660.1:n.*550A>T
ENST00000681548.1:c.*465A>T	ENSP00000505275.1:n.*465A>T
ENST00000681616.1:c.*538A>T	ENSP00000505111.1:n.*538A>T
ENST00000681621.1:c.*463A>T	ENSP00000505770.1:n.*463A>T
ENST00000681680.1:n.2974A>T
ENST00000681720.1:c.*334A>T	ENSP00000505438.1:n.*334A>T
ENST00000681730.1:n.1101A>T
ENST00000681790.1:c.621A>T	ENSP00000505130.1:p.Gln207His
ENST00000681837.1:n.1495A>T
ENST00000681913.1:n.3003A>T
ENST00000681916.1:c.*647A>T	ENSP00000506477.1:n.*647A>T
ENST00000681930.1:n.3003A>T
ENST00000370834.9:c.978A>T	ENSP00000359871.5:p.Gln326His
ENST00000370841.8:c.879A>T	ENSP00000359878.4:p.Gln293His
ENST00000420607.6:c.891A>T	ENSP00000409612.2:p.Gln297His
ENST00000481374.1:n.30A>T
ENST00000525808.5:c.*465A>T	ENSP00000434823.1:n.*465A>T
ENST00000526129.5:c.*663A>T	ENSP00000434092.1:n.*663A>T
ENST00000526196.5:c.*647A>T	ENSP00000431953.1:n.*647A>T
ENST00000528016.1:c.93A>T	ENSP00000434284.1:p.Gln31His
ENST00000529059.5:n.788A>T
ENST00000532207.5:n.609A>T
ENST00000534334.5:c.*463A>T	ENSP00000435584.1:n.*463A>T
ENST00000541113.5:c.771A>T	ENSP00000442324.1:p.Gln257His
NM_000016.5:c.879A>T	NP_000007.1:p.Gln293His
NM_001127328.2:c.891A>T	NP_001120800.1:p.Gln297His
NM_001286042.1:c.771A>T	NP_001272971.1:p.Gln257His
NM_001286043.1:c.978A>T	NP_001272972.1:p.Gln326His
NM_001286044.1:c.312A>T	NP_001272973.1:p.Gln104His
NM_000016.6:c.879A>T MANE Select	NP_000007.1:p.Gln293His
NM_001127328.3:c.891A>T	NP_001120800.1:p.Gln297His
NM_001286042.2:c.771A>T	NP_001272971.1:p.Gln257His
NM_001286043.2:c.978A>T	NP_001272972.1:p.Gln326His
NM_001286044.2:c.312A>T	NP_001272973.1:p.Gln104His